摘要
目的分析浙江地区人群中地中海贫血分布情况与基因型类型,为本地区地贫的防治提供资料。方法送检对象来自于浙江各区、县,为2021年1月-12月进行地贫基因筛查的3250例样本,采用荧光PCR熔解曲线法,对常见的6种α地中海贫血及21种β地中海贫血基因进行基因型检测。结果3250例患者中检出地中海贫血1666例,检出率为51.26%。其中检出α地中海贫血757例占比23.29%,检出β地中海贫血909例占比27.97%。α地中海贫血以αα/--SEA型为主(69.62%),β地中海贫血以IVS-Ⅱ-654(C>T)杂合突变最为常见(35.53%)。结论浙江地区β地中海贫血发病率高于α地中海贫血,尽管浙江并非我国地贫高发地区,但发病率和新生儿患病风险仍然不能忽视,做好育龄人群和新生儿的地贫筛查和基因诊断具有重要意义。
Objective To analyze the distribution and genotype types of thalassemia in the population of Zhejiang area,and to provide information for the prevention and treatment of thalassemia in this region.Methods Samples were sent from all districts and counties of Zhejiang,which were 3250 samples that underwent thalassemia gene screening from January to December 2021,and genotypes of 6 commonα-thalassemia genes and 21β-thalassemia genes were detected by fluorescence PCR melting curve method.Results Thalassemia was detected in 1666 of 3250 patients,with a detection rate of 46.95%.Among them,757 cases ofα-thalassemia were detected accounting for 23.29%,and 909 cases ofβ-thalassemia were detected accounting for 27.97%.α-thalassemia was predominantly of theαα/--SEA type(69.62%),andβ-thalassemia was most commonly characterized by the heterozygous mutation of IVS-Ⅱ-654(C>T)(35.53%).Conclusion The prevalence ofβ-thalassemia was higher than that ofα-thalassemia in Zhejiang area.Although Zhejiang is not a high prevalence area of thalassemia in China,the prevalence and risk of the disease in newborns should not be ignored,and it is important to do a good job of screening and genetic diagnosis of thalassemia in the population of childbearing age and in newborns.
作者
曾甜甜
许生样
ZENG Tiantian;XU Shengyang(Hangzhou DIAN Medical Laboratory Co.,Ltd.,Hangzhou 310012,Zhejiang,China)
出处
《医学信息》
2025年第3期46-49,共4页
Journal of Medical Information
作者简介
曾甜甜(1997.7-),女,江西瑞昌人,本科,检验技师,主要从事分子相关临床检验工作。
